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SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.
Ghemrawi R, Arnold C, Battaglia-Hsu SF, Pourié G, Trinh I, Bassila C, Rashka C, Wiedemann A, Flayac J, Robert A, Dreumont N, Feillet F, Guéant JL, Coelho D. Ghemrawi R, et al. Among authors: wiedemann a. Metabolism. 2019 Dec;101:153992. doi: 10.1016/j.metabol.2019.153992. Epub 2019 Oct 28. Metabolism. 2019. PMID: 31672445
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Molin A, Wiedemann A, Demers N, Kaufmann M, Do Cao J, Mainard L, Dousset B, Journeau P, Abeguile G, Coudray N, Mittre H, Richard N, Weryha G, Sorlin A, Jones G, Kottler ML, Feillet F. Molin A, et al. Among authors: wiedemann a. J Bone Miner Res. 2017 Sep;32(9):1893-1899. doi: 10.1002/jbmr.3181. Epub 2017 Jul 13. J Bone Miner Res. 2017. PMID: 28548312 Free article.
[Cyclic vomiting syndrome in children].
Brezin F, Wiedemann A, Feillet F. Brezin F, et al. Among authors: wiedemann a. Arch Pediatr. 2017 Nov;24(11):1129-1136. doi: 10.1016/j.arcped.2017.08.010. Epub 2017 Sep 22. Arch Pediatr. 2017. PMID: 28947248 French.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: wiedemann a. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 Free article.
Efficacy of low dose nitisinone in the management of alkaptonuria.
Sloboda N, Wiedemann A, Merten M, Alqahtani A, Jeannesson E, Blum A, Henn-Ménétré S, Guéant JL, Renard E, Feillet F. Sloboda N, et al. Among authors: wiedemann a. Mol Genet Metab. 2019 Jul;127(3):184-190. doi: 10.1016/j.ymgme.2019.06.006. Epub 2019 Jun 19. Mol Genet Metab. 2019. PMID: 31235217
423 results